Neonatal Haemophagocytic Lymphohistiocytosis Associated with Maternal Adult-Onset Still's Disease
| Autor: | Frankie W.T. Cheng, Terence Ping Yuen Ma, Anna Lin, Pak Cheung Ng |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Pediatrics
medicine.medical_specialty Fever Hepatosplenomegaly Infant Premature Diseases Disease Lymphohistiocytosis Hemophagocytic 03 medical and health sciences 0302 clinical medicine Pregnancy Prenatal Diagnosis hemic and lymphatic diseases 030225 pediatrics Cyclosporin a medicine Humans Genetic Testing Exome sequencing Etoposide Cytopenia business.industry Infant Newborn Infant medicine.disease Pancytopenia Rash Pregnancy Complications 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health Immunology Cyclosporine Female medicine.symptom business Still's Disease Adult-Onset Infant Premature Developmental Biology |
| Zdroj: | Neonatology. 110:267-269 |
| ISSN: | 1661-7819 1661-7800 |
| Popis: | Neonatal haemophagocytic lymphohistiocytosis (HLH) is a rare but potentially lethal condition. We recently encountered a preterm infant who developed severe HLH associated with maternal adult-onset Still's disease, which to our knowledge has not been previously reported. The infant presented with fever, generalised lymphadenopathy, transient erythematous skin rash, hepatosplenomegaly, ascites, pancytopenia, marked hyperferritinaemia, and hypofibrinogenaemia, which were features similar to maternal presentation during late pregnancy. Whole gene exome sequencing screening for familial HLH (PRF1, STX11, STXBP2, and MUNC13D genes) was negative. We postulated that factors such as auto-antibodies, antigens, or inflammatory mediators transmitted vertically from the mother could have triggered the intense inflammation in the infant. The infant responded promptly to dexamethasone, etoposide, and cyclosporin A, without the need for bone marrow transplantation. Neonatologists should be alerted to the rare diagnosis of HLH in the presence of active maternal diseases, including infection or autoimmune conditions, especially in association with fever, cytopenia, and hepatosplenomegaly. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|